Rothschild H, Bickers J, Marcus R
Acta Haematol. 1976;56(5):285-91. doi: 10.1159/000207949.
We have studied a 41-year-old black male with the simultaneous occurrence of hereditary persistence of fetal hemoglobin (HPFH) and beta-thalassemia, and his two postadolescent sons, each heterozygous for one of the traits. The son heterozygous for beta-thalassemia had an elevated Hb A2, but the index case did not. The data from this pedigree indicate that the delta-allele trans to the beta-thalassemia gene was reponsible for the increased delta-chain production. Evidence from other cases of combination HPFH and beta-thalassemia indicates that regulation of the beta- and delta-chain production in beta-thalassemia is heterogeneous with respect to mechanism.
我们研究了一名41岁的黑人男性，他同时患有胎儿血红蛋白遗传性持续存在（HPFH）和β地中海贫血，以及他的两个青春期后的儿子，每个儿子都携带其中一种性状的杂合基因。携带β地中海贫血杂合基因的儿子Hb A2升高，但先证者没有。该系谱的数据表明，与β地中海贫血基因呈反式排列的δ等位基因导致了δ链产量的增加。来自其他HPFH和β地中海贫血合并病例的证据表明，β地中海贫血中β链和δ链产生的调控在机制上是异质性的。
